Phenylketonuria: Effects, Treatment and Screening Methods.
Phenylketonuria, otherwise known as PKU, is a rare genetic disease that is caused by a person’s body being unable to metabolize the amino acid phenylalanine. The disease can cause mental retardation because the build up of phenylalanine in the body.
The couple was surprised that although none of them had PKU, a blood test that was performed on the baby revealed that she had phenylketonuria (PKU). Phenylketonuria (pku) case study essay. What is PKU? Phenylketonuria, also known as PKU is an inherited genetic disorder which causes a buildup of phenylalanine, an amino acid in the body.
PHENYLKETONURIA. Phenylketonuria - or PKU - is a rare inherited dieses. It is caused by the absence of an enzyme for dealing with the amino acid phenylalanine and leads to brain damage in the young child. Screening at birth and the start of a special diet have meant that the child s brain will develop normally.
Phenylketonuria (PKU) is a genetic disorder that prevents the normal use of protein food. There is an amino acid called phenylalanine found in many proteins. For a normal human, the extra (unneeded) phenylalanine accumulated through food is excreted or broken down.
Phenylketonuria Essay. - Phenylketonuria Phenylketonuria, otherwise known as PKU, is a rare genetic disease that is caused by a person’s body being unable to metabolize the amino acid phenylalanine. The disease can cause mental retardation because the build up of phenylalanine in the body.
Strong Essays 1532 words (4.4 pages) Phenylketonuria Essay - Phenylketonuria Phenylketonuria, otherwise known as PKU, is a rare genetic disease that is caused by a person’s body being unable to metabolize the amino acid phenylalanine.
Phenylketonuria, otherwise known as PKU, is an inherited rare disorder that causes a buildup of the amino acid phenylalanine in the body. PKU is caused by a defect in the gene that usually breaks down phenylalanine (Orphanet). A dangerous build up of of phenylalanine can occur when a person with PKU.
Phenylketonuria. 5 Pages 1129 Words. Phenylketonuria, otherwise known as PKU, is a rare genetic disease that is caused by a person’s body being unable to metabolize the amino acid phenylalanine. The disease can cause mental retardation because the build up of phenylalanine in the body.
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PKU is one of 50 known inborn errors in the handling of animo acids and is inherited in a recessive way, that is the abnormal gene has to be inherited from both parents. If a couple have one child affected with Pku, there is a 25 per cent risk that any further children will be affected.
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Phenylketonuria (PKU) is a disease that's inherited that increases the levels of phenylalanine in the blood. If left untreated, high phenylalanine levels can cause intellectual disability and other problems. Phenylketonuria disease was discovered in 1934 by Dr. A. Folling. Signs and symptoms of PKU vary from mild to severe depending upon.
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